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Mendeliome

Gene: SLC35F1

Amber List (moderate evidence)

SLC35F1 (solute carrier family 35 member F1)
EnsemblGeneIds (GRCh38): ENSG00000196376
EnsemblGeneIds (GRCh37): ENSG00000196376
SLC35F1 is in 3 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

I don't know

Probable 2nd internal VCGS case with intellectual disability and seizures and a de novo Gly226Arg variant.
Created: 25 Nov 2024, 9:30 p.m. | Last Modified: 27 Nov 2024, 4:11 a.m.
Panel Version: 1.2151

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, SLC35F1-related

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.

Global developmental delay, generalized tonic andtonic–clonic seizure, never acquired independent walking and developed spastictetraplegia in adulthood and limited speech

no protein functional work was performed
Sources: Literature
Created: 7 Jan 2022, 3:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Rett-like syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated
  • Rett-like syndrome
Clinvar variants
Variants in SLC35F1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

26 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35f1 has been classified as Amber List (Moderate Evidence).

7 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc35f1 has been classified as Red List (Low Evidence).

7 Jan 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC35F1 were changed from Rett-like syndrome to Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome

7 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc35f1 has been classified as Red List (Low Evidence).

7 Jan 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: SLC35F1 was added gene: SLC35F1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC35F1 were set to 33821533 Phenotypes for gene: SLC35F1 were set to Rett-like syndrome Penetrance for gene: SLC35F1 were set to unknown Review for gene: SLC35F1 was set to RED gene: SLC35F1 was marked as current diagnostic